Results 221 to 230 of about 9,516,409 (390)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart, Sophie E. Legge, Eilidh Fenner, Antonio F. Pardiñas, Grace Woolway, Amy J. Lynham, Valentina Escott‐Price, Jeremy Hall, Lawrence Wilkinson, Peter Holmans, Michael C. O'Donovan, Michael J. Owen, James T.R. Walters   +12 more
wiley   +1 more source

Musculoskeletal Diseases: From Molecular Basis to Therapy (Volume II). [PDF]

Biomedicines
Belluzzi E, Pozzuoli A, Ruggieri P.
europepmc   +1 more source

Transitions to Employment from Labour Market Enterprises in Norway [PDF]

We analyse a labour market programme for partly disabled workers that involves the transition from Labour Market Enterprises to a job in the ordinary labour market.
Aakvik, Arild, Dahl, Svenn-Åge
core  

Frequent discordance between clinical and musculoskeletal ultrasound examinations of foot disease in juvenile idiopathic arthritis observed in the multidisciplinary setting [PDF]

, 2011
Gordon Hendry, Martijn Steultjens, Janet Gardner‐Medwin, James Woodburn, Deborah E. Turner   +4 more
openalex   +1 more source

A mouse coccygeal intervertebral disc degeneration model with tail‐looping constructed using a suturing method

Animal Models and Experimental Medicine, EarlyView.
A novel, simple coccygeal intervertebral disc degeneration model, using a suturing method for tail‐looping, without the need for external fixation and complex surgery. The model has high reproducibility and stability and overcomes the disadvantages of the existing animal models of disc degeneration.
Wei Xie, Zemao Huang, Ziyang Huang, Deqing Luo, Zhangxin Chen, Li Xie, Lingqi Zhu, Hui Liu, Kejian Lian, Paolo Alberton, Denitsa Docheva, Dasheng Lin   +11 more
wiley   +1 more source

Unveiling research hotspots: a bibliometric study on macrophages in musculoskeletal diseases. [PDF]

Front Immunol
Yue Y, Cao S, Cao F, Wei Y, Li A, Wang D, Liu P, Zeng H, Lin J.   +8 more
europepmc   +1 more source

Systematic review of the subcutaneous air pouch model using monosodium urate and calcium pyrophosphate and recommendations for studying crystal‐related arthropathies

Animal Models and Experimental Medicine, EarlyView.
Simplified schematic for generation of the subcutaneous air pouch model in the rodent. On day 0 and 4, air is injected into the subcutaneous space on the dorsal surface of the rodent to generate a cavity analogous to a synovial joint. On day 6, monosodium urate (MSU) or calcium pyrophosphate (CPP) crystals are injected into the pouch to stimulate ...
Wenu Hewage, Josif Vidimce, Ryan G. Shiels, Michael Morgan, Andrew C. Bulmer   +4 more
wiley   +1 more source

Immunosuppression Adversely Affects TST but Not IGRAs in Patients with Psoriasis or Inflammatory Musculoskeletal Diseases [PDF]

, 2012
Esko Tavast, Tamara Tuuminen, Sari H. Pakkanen, Mari Eriksson, Anu Kantele, Asko Järvinen, Liana Pusa, Tarja Mälkönen, Ilkka Seppälä, Heikki Repo, Marjatta Lerisalo-Repo   +10 more
openalex   +1 more source

Deep Brain Stimulation for VPS16‐Related Dystonia: A Multicenter Study

Annals of Neurology, EarlyView.
Objective The objective was to evaluate the effects of deep brain stimulation (DBS) in an international cohort of patients with VPS16‐related dystonia. Methods This observational study collected preoperative and postoperative demographic, clinical, stimulation, genetic, neuroimaging, and neurophysiological data of medically refractory DYT‐VPS16 ...
Tatiana Svorenova, Luigi M. Romito, Ahmet Kaymak, Eoin Mulroy, Laura Cif, Elena Moro, Kirsten E. Zeuner, Simone Zittel, Jan Niklas Petry‐Schmelzer, Doreen Gruber, Liesanne Centen, Alberto Albanese, Miriama Ostrozovicova, Vladimir Han, Veronika Magocova, Kamil Knorovsky, Aurelia Kollova, Barbara Garavaglia, Nico Golfrè‐Andreasi, Chiara Reale, Alberto Mazzoni, Giovanna Zorzi, Roberto Eleopra, Vincenzo Levi, Thomas Foltynie, Patricia Limousin, Harith Akram, Ludvic Zrinzo, Francesca Magrinelli, David Murphy, Henry Houlden, Manju A. Kurian, Claudio Baiata, Steffen Paschen, Katja Lohmann, Jens Volkmann, Wolfgang Hamel, Michael T. Barbe, Martje E. van Egmond, MAJ Tijssen, Lubos Ambro, Veronika Jurkova, Robert Jech, Petra Havrankova, Juliane Winkelmann, Michael Zech, Matej Skorvanek   +46 more
wiley   +1 more source